|
|
Code
|
Test Name
|
Method
|
Mutation/Exon
|
Diagnostic Value
|
Turn Around Time
|
Price
|
|
40160
|
CADASIL Genetic Analysis
|
Sequencing
|
Sequence alteration in NOTCH3
exons 3, 4, 5, 6 sequence analysis
|
~70%
|
1 Month
|
|
|
|
Disease
|
Disease OMIM
|
Inheritance
|
Gene
|
Gene OMIM
|
Locus
|
Protein
|
|
- CADASIL
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
125310
|
Autosomal Dominant
|
NOTCH3
|
600276
|
19p13.2-p13.1
|
Neurogenic locus notch homolog protein 3
|
|
DNA
|
CDS
|
Exon
|
|
41.35 kb
|
6966 bp
|
33
|
|
|
Sample
|
Volume
|
Tube
|
Transport
|
Unacceptable Conditions
|
Remarks
|
|
BloodEDTA
|
5 ml
|
Lavender-top
|
18-24 C0
|
Frozen, Hemolyzed Specimens
|
The sample should be send with written consent of the patient.
|
|
|
|
Last Updated on Wednesday, 20 April 2011 15:32 |
